scholarly journals POS1326 FAMILIAL PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA)SYNDROME; IS IT A SEPARATE DISEASE?

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 945.2-945
Author(s):  
Y. Butbul
Keyword(s):  
Family History ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Positive Family History ◽  
Aphthous Stomatitis ◽  
M694v Mutation ◽  
Fever Syndromes ◽  
History Of ◽  
Pfapa Syndrome ◽  
Sporadic Disease

Background:Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) is the most common periodic fever syndrome in the pediatric population. Unlike other periodic fever syndromes, the pathogenesis and genetics of PFAPA is unknown. Until recently, PFAPA was believed to be a sporadic disease, yet family clustering has been widely observed and current research indicates that heredity is likely.Objectives:To identify demographic and clinical differences between patients with PFAPA who have a positive family history (FH+) compared to those with PFAPA with no family history (FH-) that can reveal if heritable and sporadic subtypes of this disorder exist.Methods:In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31(14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details.Results:FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003).Conclusion:Our findings suggest that FH+ had probably different subset of disease with higher frequency of family history of FMF arthralgia, myalgia and better response to colchicine. Colchicine prophylaxis for PFAPA should be considered in FH+.Disclosure of Interests:None declared

Familial Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome; is it a Separate Disease?

2021 ◽  
Author(s):  
Tamar Veres ◽  
Gil Amarilyo ◽  
Sabreen Abu Ahmad ◽  
Maryam Abu Rumi ◽  
Riva Brik ◽  
...  
Keyword(s):  
Family History ◽  
Clinical Data ◽  
Carrier Frequency ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Positive Family History ◽  
Periodic Fever Syndrome ◽  
M694v Mutation ◽  
History Of ◽  
Pfapa Syndrome

Abstract Introduction: PFAPA is the most common periodic fever syndrome in the pediatric population yet pathogenesis is unknown. PFAPA was believed to be sporadic but family clustering has been widely observed.Objective: To identify demographic and clinical differences between patients with PFAPA and a positive family history (FH+) compared to those with PFAPA with no family history (FH-).Methods: In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31 (14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details. Results: FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003). Conclusions: Our findings suggest that FH+ likely experience a different subset of disease with higher frequency of family history of FMF, arthralgia, myalgia and better response to colchicine compared to FH-. Colchicine prophylaxis for PFAPA should be considered in FH+.

scholarly journals Some Risk Factors of Chronic Functional Constipation Identified in a Pediatric Population Sample from Romania

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Claudia Olaru ◽  
Smaranda Diaconescu ◽  
Laura Trandafir ◽  
Nicoleta Gimiga ◽  
Gabriela Stefanescu ◽  
...  
Keyword(s):  
Family History ◽  
Dietary Habits ◽  
Pediatric Population ◽  
Positive Family History ◽  
Population Sample ◽  
Control Sample ◽  
Functional Constipation ◽  
Control Group ◽  
Significant Difference ◽  
History Of

We conducted an observational study over a 1-year period, including 234 children aged 4–18 years and their caregivers and a matching control group. 60.73% of the children from the study group were males. Average age for the onset of constipation was 26.39 months. The frequency of defecation was 1/4.59 days (1/1.13 days in the control group). 38.49% of the patients in the sample group had a positive family history of functional constipation. The majority of children with functional constipation come from single-parent families, are raised by relatives, or come from orphanages. Constipated subjects had their last meal of the day at later hours and consumed fast foods more frequently than the children in the control sample. We found a statistically significant difference between groups regarding obesity/overweight and constipation (χ2=104.94,  df=2,  p<0.001) and regarding physical activity and constipation (χ2=18.419;  df=3;  p<0.001). There was a positive correlation between the number of hours spent watching television/using the computer and the occurrence of the disease (F= 92.162,p<0.001, and 95% Cl). Children from broken families, with positive family history, defective dietary habits, obesity and sedentary behavior, are at higher risk to develop chronic functional constipation.

scholarly journals РFАРА–syndrome: a literature review and own clinical observation

2020 ◽  
pp. 57-61
Author(s):  
D.S. Khapchenkova ◽  
◽  
S.О. Dubyna ◽  
Keyword(s):  
Clinical Case ◽  
Clinical Symptoms ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Clinical Manifestations ◽  
Well Being ◽  
Aphthous Stomatitis ◽  
Unknown Etiology ◽  
Pfapa Syndrome ◽  
Laboratory Changes

Аutoinflammatory diseases or syndromes (HAIDS) have attracted practical and scientific interest. This group of pathologies is united by similar clinical symptoms in the form of periodic fever, systemic inflammation and other clinical syndromes. PFAPA — syndrome or Marshall's syndrome is one of the most common representatives of this group of diseases. РFАРА syndrome (Marshall's syndrome) is considered an autoinflammatory disease of unknown etiology and not fully studied pathogenesis. Gene mutations, family inheritance and the modifying role of persistent intracellular infections are considered as the causes of development. Genetically determined immune responses and neutrophilic inflammation, the presence of immune dysregulation play a role in the pathogenesis of Marshall's syndrome. The incidence and prevalence of this condition in the pediatric population are unknown. The pathology is characteristic of early childhood, the syndrome is characterized periodic fever, aphthous stomatitis, pharyngitis or tonsillitis and cervical adenitis. Patients do not have disturbances in well-being between episodes, pathognomonic laboratory changes, have normal growth and development indicators. The syndrome occurs in children under 5 years, disappears in adolescence, has good+quality current, the treatment of which is the administration of corticosteroids. The pathology has no specific biological markers, so the diagnosis is made on the basis of clinical manifestations, a thorough analysis of the history and the exclusion of other possible causes of recurrence fever. Purpose: to highlight the complexity of the diagnosis of PFAPA–syndrome. Clinical case. The article describes own clinical case of a child with Marshall's syndrome. Recurrent attacks of fever with a specific frequency in combination with aphthous stomatitis, pharyngitis and cervical lymphadenitis, the absence of specific laboratory changes and the positive effect of the corticosteroids treatment it possible to diagnose the above diagnosis. Conclusion. Literature data and the above clinical case indicate the difficulty of diagnosing this syndrome, long-term irrational drug treatment without clinical effect. So physicians in many specialties need to remember the need for a detailed survey of patients and parents, pay attention to the time and frequency of symptoms described above, and their combinations, if Marshall's syndrome is suspected do not be afraid to prescribe glucocorticosteroids for therapeutic and prophylactic purposes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Keywords: Marshall's syndrome, children, periodic fever, corticosteroids.

scholarly journals Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome

PEDIATRICS ◽  
2016 ◽  
Vol 138 (3) ◽  
pp. e20154572-e20154572 ◽  
Author(s):  
K. Manthiram ◽  
E. Nesbitt ◽  
T. Morgan ◽  
K. M. Edwards
Keyword(s):  
Family History ◽  
Periodic Fever ◽  
Aphthous Stomatitis ◽  
Pfapa Syndrome

scholarly journals The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Family History ◽  
Case Control Study ◽  
Positive Family History ◽  
Case Control ◽  
Diabetes Duration ◽  
Family History Of Diabetes ◽  
Thyroid Cancer Risk ◽  
History Of ◽  
Control Study

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.

scholarly journals THU0019 INTRON REGIONS OF PIK3AP1 (BCAP) AND SPON2 (SPONDIN-2) GENES ARE DIFFERENTIALLY METHYLATED IN PATIENTS WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA) SYNDROME

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 223.3-223
Author(s):  
E. Lovšin ◽  
J. Kovac ◽  
T. Tesovnik ◽  
N. Toplak ◽  
D. Perko ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Pattern Recognition ◽  
Periodic Fever ◽  
Aphthous Stomatitis ◽  
Extracellular Matrix Protein ◽  
Inflammasome Activation ◽  
Cervical Adenitis ◽  
Pfapa Syndrome ◽  
Pattern Recognition Molecule ◽  
Recognition Molecule

Background:Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is the most common autoinflammatory disease in children, often grouped together with hereditary periodic fever syndromes, although its cause and hereditary nature remain unexplained.Objectives:We investigated whether a differential DNA methylation was present in DNA from peripheral blood mononuclear cells (PBMC) in patients with PFAPA versus a group of healthy young individuals.Methods:A whole epigenome analysis (MeDIP and MBD) was performed using pooled DNA libraries enriched for methylated genomic regions. Of identified candidate genes, two with most significantly different methylation leves were further evaluated with methylation specific restriction enzymes coupled with qPCR (MSRE-qPCR).Results:The analysis showed thatPIK3AP1andSPON2intronic gene regions are differentially methylated in patients with PFAPA. MSRE-qPCR proved as a quick, reliable and cost-effective method to confirm results from MeDIP and MBD.Conclusion:Our findings indicate that B cell adapter protein (BCAP) as PI3K binding inhibitor of inflammation and spondin-2 (SPON2) as a pattern recognition molecule and integrin ligand could play a role in etiology of PFAPA. Their role and impact of changed DNA methylation in PFAPA etiology and autoinflammation need further investigation.References:[1]Wekell P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome – PFAPA syndrome. Press Medicale [Internet]. 2019;48(1):e77–87. Available from:https://doi.org/10.1016/j.lpm.2018.08.016[2]K. Theodoropoulou, F. Vanoni, and M. Hofer, “Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis,”Curr. Rheumatol. Rep., vol. 18:18, 2016.[3]Carpentier SJ, Ni M, Duggan JM, James RG, Cookson BT, Hamerman JA. The signaling adaptor BCAP inhibits NLRP3 and NLRC4 inflammasome activation in macrophages through interactions with Flightless-1. Sci Signal. 2019;12(581).[4]He YW, Li H, Zhang J, Hsu CL, Lin E, Zhang N, et al. The extracellular matrix protein mindin is a pattern-recognition molecule for microbial pathogens. Nat Immunol. 2004;5(1):88–97.Disclosure of Interests:None declared

scholarly journals Differential expression of micro RNA-29 family in non-diabetic adults of diabetic and non-diabetic parents

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Positive Family History ◽  
Cross Sectional Study ◽  
Vital Role ◽  
Micro Rna ◽  
Cross Sectional ◽  
Family History Of Diabetes ◽  
History Of

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).

A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Group Therapy ◽  
Perceived Risk ◽  
Positive Family History ◽  
Risk Information ◽  
Degree Relative ◽  
Therapy Approach ◽  
History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

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